Gene Summary

Name:
synaptogyrin 2
Synonyms:
cellugyrin,  Clast2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
absent vibrissae Syngr2em1(IMPC)J HOM Early adult 9.38×10-06
decreased circulating aspartate transaminase level Syngr2em1(IMPC)J HOM Early adult 6.25×10-07
thrombocytosis Syngr2em1(IMPC)J HOM Early adult 8.67×10-05
increased circulating glucose level Syngr2em1(IMPC)J HOM Early adult 7.39×10-05
decreased circulating bilirubin level Syngr2em1(IMPC)J HOM Early adult 1.88×10-10

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Combined SHIRPA and Dysmorphology

Images

5 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Human diseases caused by Syngr2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Syngr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Thrombocythemia 3
Thrombocytosis OMIM:614521
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Elevated circulating C-react... OMIM:604416
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Coombs-positive hemolytic anemia, Thrombocytosis, E... OMIM:614034
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis ORPHA:134
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Nail dystrophy, Anemia, Thrombocytosis, Elevated circulating C-reactive ... OMIM:615934
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... ORPHA:99886
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichosis, Hypoglycemia, Hy... OMIM:262190
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
3-Hydroxy-3-Methylglutaric Aciduria
Recurrent hypoglycemia, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Nonketotic hypog... ORPHA:20
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Alopecia, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Thro... OMIM:212750
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fine hair, Trichor... OMIM:222470
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Poems Syndrome
Polycythemia, Hypertrichosis, Leukonychia, Splenomegaly, Thrombocytosis, Diabetes mellitus ORPHA:2905
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... OMIM:243150
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis... OMIM:615688
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... ORPHA:324636
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Syndromic Diarrhea
Trichorrhexis nodosa, Lymphopenia, Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Uncomb... ORPHA:84064
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... OMIM:301074
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis OMIM:212065
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis ORPHA:729
Interstitial Lung And Liver Disease
Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis OMIM:615486
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Familial Thrombocytosis
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis ORPHA:71493
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia ORPHA:681
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria ORPHA:2089
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Cogan Syndrome
Anemia, Leukocytosis, Thrombocytosis ORPHA:1467
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Cole Disease
Abnormal blood phosphate concentration, Abnormal hair morphology, Hyperglycemia OMIM:615522
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Kawasaki Disease
Hypoalbuminemia, Abnormality of nail color, Leukocytosis, Thrombocytosis, Elevated circulating C-... ORPHA:2331
Brucellosis
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Thrombocytosis, ... ORPHA:1304
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Leukocytosis, Thrombocytosis OMIM:618213
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Neutropenia, Thrombocyto... ORPHA:391673
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... OMIM:608612
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Donohue Syndrome
Postprandial hyperglycemia, Hypertrichosis, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia OMIM:619737
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Hirsutism OMIM:175700
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus OMIM:615710
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, Leukocytosis, Nail dystrophy,... ORPHA:2968
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hyperammonemia, Hypoglycemia OMIM:615453
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... OMIM:227810
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Hypophosphatemia, Fasting hypoglycemia, Hypertriglyceride... ORPHA:2088
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Hyperglycemia, Splenomegaly, Abnormality of iron ho... ORPHA:465508
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Premature gr... ORPHA:769
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia, Leukocytosis ORPHA:90065
Doors Syndrome
Thrombocytosis, Low anterior hairline ORPHA:79500
Short Syndrome
Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hypernatremia OMIM:620423
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, H... OMIM:248370
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia OMIM:615954
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Anemia, Hypochromic microcytic anemia ORPHA:440713
Alstrom Syndrome
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hypertriglyceride... OMIM:203800
Pancreatic And Cerebellar Agenesis
Anemia, Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Alopecia, Hirsutism, Decreased circulating renin level ORPHA:90795
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Glycosuria, Insulin-resistant diabetes mellitus, Premature graying... ORPHA:79474
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Absent axillary hair, Absent pubic hair, Decreased circulating renin level ORPHA:90793
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Hypertrichosis, Hyperinsul... ORPHA:508
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp... ORPHA:79102
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Hypertyrosinemia, Brittle hair OMIM:124000
Scorpion Envenomation
Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas... ORPHA:466677
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Facial hirsutism, Long eyelashes, Thick eyebrow, Hyperglycemia, Thick hair... ORPHA:444077
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hirsutism, Low anterior hairline OMIM:220111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperglycemia, Hyperlipidemia ORPHA:293987
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Glycosuria OMIM:600001
Bardet-Biedl Syndrome
Insulin resistance, Decreased HDL cholesterol concentration, Impaired fasting glucose, Type II di... ORPHA:110
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level OMIM:201750

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Syngr2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Syngr2.

No publications found that use IMPC mice or data for Syngr2.

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MGI Allele Allele Type Produced
Syngr2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Syngr2em1(IMPC)J Whole-gene deletion Mice
Syngr2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Syngr2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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